Establishment of MURAi007-A, a human induced pluripotent stem cell line from a patient with inherited retinal dystrophy carrying compound heterozygous mutations in the PNPLA6 gene

Abstract

Pathogenic variants in PNPLA6, encoding neuropathy target esterase (NTE), cause PNPLA6 disorders, characterized by chorioretinal dystrophy, hypopituitarism, and peripheral neuropathy. While defective NTE disrupts phospholipid homeostasis, the disease mechanism remains unclear. We generated the MURAi007-A human induced pluripotent stem cell (hiPSC) line from a male patient with PNPLA6 disorders using a non-integrating method. This hiPSC line demonstrates a normal karyotype and can differentiate into all three germ layers. The MURAi007-A line is a valuable model for investigating PNPLA6 disorder mechanisms and may also aid research into other retinal and neurological diseases.